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Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Correa, Alec Reginald Errol; Gupta, Neerja; Bagri, Narendra; Vignesh, Pandiarajan; Alam, Seema; Yamaguchi, Seiji.
Afiliación
  • Correa ARE; All India Institute of Medical Sciences, New Delhi, India.
  • Gupta N; All India Institute of Medical Sciences, New Delhi, India. neerja17aiims@gmail.com.
  • Bagri N; All India Institute of Medical Sciences, New Delhi, India.
  • Vignesh P; Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Alam S; Institute of Liver and Biliary Sciences, New Delhi, India.
  • Yamaguchi S; Shimane University School of Medicine 89-1 En-ya-cho, Izumo Shimane, Japan.
Indian Pediatr ; 57(2): 180-181, 2020 02 15.
Article en En | MEDLINE | ID: mdl-32060250
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deficiencia de Mevalonato Quinasa / Fiebre de Origen Desconocido Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Indian Pediatr Año: 2020 Tipo del documento: Article País de afiliación: India Pais de publicación: India
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deficiencia de Mevalonato Quinasa / Fiebre de Origen Desconocido Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Indian Pediatr Año: 2020 Tipo del documento: Article País de afiliación: India Pais de publicación: India